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Protein

CGG triplet repeat-binding protein 1

Gene

CGGBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter.1 Publication

GO - Molecular functioni

  • double-stranded DNA binding Source: ProtInc
  • RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  • transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding Source: NTNU_SB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
CGG triplet repeat-binding protein 1
Short name:
CGG-binding protein 1
Alternative name(s):
20 kDa CGG-binding protein
p20-CGGBP DNA-binding protein
Gene namesi
Name:CGGBP1
Synonyms:CGGBP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:1888. CGGBP1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26441.

Polymorphism and mutation databases

BioMutaiCGGBP1.
DMDMi116243045.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 167167CGG triplet repeat-binding protein 1PRO_0000252415Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei56 – 561PhosphoserineCombined sources
Modified residuei164 – 1641PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UFW8.
MaxQBiQ9UFW8.
PaxDbiQ9UFW8.
PeptideAtlasiQ9UFW8.
PRIDEiQ9UFW8.

PTM databases

iPTMnetiQ9UFW8.
PhosphoSiteiQ9UFW8.

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in placenta, thymus, lymph nodes, cerebellum and cerebral cortex. Low expression in other regions of the brain.1 Publication

Developmental stagei

Expressed in fetal brain and kidney. Lower expression in fetal liver and lung.1 Publication

Gene expression databases

BgeeiQ9UFW8.
CleanExiHS_CGGBP1.
ExpressionAtlasiQ9UFW8. baseline and differential.
GenevisibleiQ9UFW8. HS.

Organism-specific databases

HPAiHPA035568.
HPA037017.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FAM124AQ86V423EBI-723153,EBI-744506
GLRX3O760033EBI-723153,EBI-374781
RELQ048643EBI-723153,EBI-307352
SDCBPO005603EBI-723153,EBI-727004

Protein-protein interaction databases

BioGridi114115. 18 interactions.
IntActiQ9UFW8. 11 interactions.
MINTiMINT-4540962.
STRINGi9606.ENSP00000381428.

Structurei

3D structure databases

ProteinModelPortaliQ9UFW8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi80 – 845Nuclear localization signalSequence analysis

Phylogenomic databases

eggNOGiENOG410IE4P. Eukaryota.
ENOG41111EK. LUCA.
GeneTreeiENSGT00390000017898.
HOGENOMiHOG000000684.
HOVERGENiHBG081129.
InParanoidiQ9UFW8.
OMAiTPQDRVT.
OrthoDBiEOG7SXW4N.
PhylomeDBiQ9UFW8.
TreeFamiTF335518.

Family and domain databases

InterProiIPR033375. Cggbp1.
[Graphical view]
PANTHERiPTHR32344. PTHR32344. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9UFW8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MERFVVTAPP ARNRSKTALY VTPLDRVTEF GGELHEDGGK LFCTSCNVVL
60 70 80 90 100
NHVRKSAISD HLKSKTHTKR KAEFEEQNVR KKQRPLTASL QCNSTAQTEK
110 120 130 140 150
VSVIQDFVKM CLEANIPLEK ADHPAVRAFL SRHVKNGGSI PKSDQLRRAY
160
LPDGYENENQ LLNSQDC
Length:167
Mass (Da):18,820
Last modified:October 17, 2006 - v2
Checksum:i1AF69CDB885BB8AD
GO

Sequence cautioni

The sequence CAB55894.1 differs from that shown. Reason: Frameshift at position 149. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti165 – 1651Q → R in CAB55894 (PubMed:14667814).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ000258 mRNA. Translation: CAA03974.1.
AF094481 Genomic DNA. Translation: AAD04161.1.
CR456854 mRNA. Translation: CAG33135.1.
AL117392 mRNA. Translation: CAB55894.1. Frameshift.
AM393707 mRNA. Translation: CAL38583.1.
CH471110 Genomic DNA. Translation: EAW68863.1.
CH471110 Genomic DNA. Translation: EAW68864.1.
BC052980 mRNA. Translation: AAH52980.1.
CCDSiCCDS43111.1.
PIRiT17204.
RefSeqiNP_001008391.1. NM_001008390.1.
NP_001182237.1. NM_001195308.1.
NP_003654.3. NM_003663.3.
XP_011532472.1. XM_011534170.1.
UniGeneiHs.444818.

Genome annotation databases

EnsembliENST00000309534; ENSP00000381428; ENSG00000163320.
ENST00000398392; ENSP00000381429; ENSG00000163320.
ENST00000462901; ENSP00000418769; ENSG00000163320.
ENST00000482016; ENSP00000420374; ENSG00000163320.
GeneIDi8545.
KEGGihsa:8545.
UCSCiuc003dqs.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ000258 mRNA. Translation: CAA03974.1.
AF094481 Genomic DNA. Translation: AAD04161.1.
CR456854 mRNA. Translation: CAG33135.1.
AL117392 mRNA. Translation: CAB55894.1. Frameshift.
AM393707 mRNA. Translation: CAL38583.1.
CH471110 Genomic DNA. Translation: EAW68863.1.
CH471110 Genomic DNA. Translation: EAW68864.1.
BC052980 mRNA. Translation: AAH52980.1.
CCDSiCCDS43111.1.
PIRiT17204.
RefSeqiNP_001008391.1. NM_001008390.1.
NP_001182237.1. NM_001195308.1.
NP_003654.3. NM_003663.3.
XP_011532472.1. XM_011534170.1.
UniGeneiHs.444818.

3D structure databases

ProteinModelPortaliQ9UFW8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114115. 18 interactions.
IntActiQ9UFW8. 11 interactions.
MINTiMINT-4540962.
STRINGi9606.ENSP00000381428.

PTM databases

iPTMnetiQ9UFW8.
PhosphoSiteiQ9UFW8.

Polymorphism and mutation databases

BioMutaiCGGBP1.
DMDMi116243045.

Proteomic databases

EPDiQ9UFW8.
MaxQBiQ9UFW8.
PaxDbiQ9UFW8.
PeptideAtlasiQ9UFW8.
PRIDEiQ9UFW8.

Protocols and materials databases

DNASUi8545.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000309534; ENSP00000381428; ENSG00000163320.
ENST00000398392; ENSP00000381429; ENSG00000163320.
ENST00000462901; ENSP00000418769; ENSG00000163320.
ENST00000482016; ENSP00000420374; ENSG00000163320.
GeneIDi8545.
KEGGihsa:8545.
UCSCiuc003dqs.4. human.

Organism-specific databases

CTDi8545.
GeneCardsiCGGBP1.
HGNCiHGNC:1888. CGGBP1.
HPAiHPA035568.
HPA037017.
MIMi603363. gene.
neXtProtiNX_Q9UFW8.
PharmGKBiPA26441.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE4P. Eukaryota.
ENOG41111EK. LUCA.
GeneTreeiENSGT00390000017898.
HOGENOMiHOG000000684.
HOVERGENiHBG081129.
InParanoidiQ9UFW8.
OMAiTPQDRVT.
OrthoDBiEOG7SXW4N.
PhylomeDBiQ9UFW8.
TreeFamiTF335518.

Miscellaneous databases

ChiTaRSiCGGBP1. human.
GeneWikiiCGGBP1.
GenomeRNAii8545.
NextBioi32012.
PROiQ9UFW8.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UFW8.
CleanExiHS_CGGBP1.
ExpressionAtlasiQ9UFW8. baseline and differential.
GenevisibleiQ9UFW8. HS.

Family and domain databases

InterProiIPR033375. Cggbp1.
[Graphical view]
PANTHERiPTHR32344. PTHR32344. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Rapid protein sequencing by tandem mass spectrometry and cDNA cloning of p20-CGGBP. A novel protein that binds to the unstable triplet repeat 5'-d(CGG)n-3' in the human FMR1 gene."
    Deissler H., Wilm M., Genc B., Schmitz B., Ternes T., Naumann F., Mann M., Doerfler W.
    J. Biol. Chem. 272:16761-16768(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 4-12; 17-26 AND 101-109, FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Melanocyte.
  2. "Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein (CGGBP1)."
    Naumann F., Remus R., Schmitz B., Doerfler W.
    Genomics 83:106-118(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
  3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Kidney.
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-164, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-56 AND SER-164, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiCGBP1_HUMAN
AccessioniPrimary (citable) accession number: Q9UFW8
Secondary accession number(s): D3DU38, O15183
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: May 11, 2016
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Binding is severely inhibited by complete or partial cytosine-specific DNA methylation of the binding motif.

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.